Jorquera J I, Aznar J, Fernández M A, Montoro J M, Curats R, Casaña P
Research and Development Division, Grifols Institute, Barcelona, Spain.
Thromb Res. 1996 May 1;82(3):217-24. doi: 10.1016/0049-3848(96)00068-0.
APC resistance appears to be caused, predominantly, by a mutation in coagulation factor V (nucleotide 1691: G to A). This phenomenon is usually studied by performing APTTs in the absence and presence of added APC. We studied a modification of the assay involving dilution of the test plasma in factor V deficient plasma, to render the assay more factor V specific. This modification was applied to 76 patients with venous thrombosis on coumarin treatment and to 45 controls. Two out of 45 controls (4.4%) showed abnormal results with the modified test. They also showed loss of factor V exon 10 Mnl I restriction site, associated to APC resistance. All remaining controls, with normal functional results by the modified assay, showed normal restriction profile. We detected 9 affected patients (11.8%), one of them homozygous or double heterozygous. In conclusion, the modified assay is very sensitive for factor V dependent APC resistance, and can successfully be applied to patients on coumarin therapy.
活化蛋白C（APC）抵抗似乎主要是由凝血因子V的突变（核苷酸1691：G突变为A）引起的。这种现象通常通过在添加和不添加APC的情况下进行活化部分凝血活酶时间（APTT）检测来研究。我们研究了一种检测方法的改进，即将测试血浆在缺乏因子V的血浆中稀释，以使检测对因子V更具特异性。这种改进方法应用于76例接受香豆素治疗的静脉血栓形成患者和45例对照。45例对照中有2例（4.4%）在改良检测中结果异常。他们还显示因子V外显子10的Mnl I限制性酶切位点缺失，这与APC抵抗相关。所有其余对照在改良检测中功能结果正常，其限制性酶切图谱也正常。我们检测到9例受影响的患者（11.8%），其中1例为纯合子或双杂合子。总之，改良检测对依赖因子V的APC抵抗非常敏感，并且可以成功应用于接受香豆素治疗的患者。
